chr3:8787330:C>T Detail (hg19) (CAV3, OXTR)

Information

Genome

Assembly Position
hg19 chr3:8,787,330-8,787,330
hg38 chr3:8,745,644-8,745,644 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001234.4:c.233C>T NP_001225.1:p.Thr78Met
NM_033337.2:c.233C>T NP_203123.1:p.Thr78Met
Ensemble ENST00000343849.3:c.233C>T ENST00000343849.3:p.Thr78Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 601253 OMIM
HGNC 1529 HGNC
Ensembl ENSG00000182533 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2018-11-21 criteria provided, single submitter long QT syndrome 9 germline unknown Detail
Pathogenic 2007-02-01 no assertion criteria provided Long QT syndrome 2/9, digenic germline Detail
Benign Likely benign 2023-12-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Conflicting interpretations of pathogenicity 2019-04-27 criteria provided, conflicting interpretations not specified germline unknown Detail
Conflicting interpretations of pathogenicity 2024-01-31 criteria provided, conflicting interpretations long QT syndrome germline maternal unknown Detail
Likely benign 2019-02-28 criteria provided, single submitter germline Detail
Benign 2018-06-05 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Likely benign 2019-05-28 criteria provided, single submitter long QT syndrome 1 unknown Detail
Uncertain significance 2017-04-27 criteria provided, single submitter Caveolinopathy germline Detail
Likely benign 2019-02-19 criteria provided, single submitter CAV3-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.124 sudden infant death syndrome In silico prediction tools were applied to variants present in ESP and 6 SIDS-as... BeFree 23465283 Detail
0.120 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
0.360 LONG QT SYNDROME 9 (disorder) NA CLINVAR Detail
0.360 LONG QT SYNDROME 9 (disorder) Mutant caveolin-3 induces persistent late sodium current and is associated with ... UNIPROT 17060380 Detail
0.122 long QT syndrome NA CLINVAR Detail
0.120 Long QT syndrome 2/9, digenic NA CLINVAR Detail
0.246 Rippling muscle disease We report the first case of a heterozygous T78M mutation in the caveolin-3 gene ... BeFree 22245016 Detail
0.126 rippling muscle disease 1 We report the first case of a heterozygous T78M mutation in the caveolin-3 gene ... BeFree 22245016 Detail
0.124 sudden infant death syndrome Mutant caveolin-3 induces persistent late sodium current and is associated with ... UNIPROT 17060380 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) AND Long QT syndrome 9 ClinVar Detail
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) AND Long QT syndrome 2/9, digenic ClinVar Detail
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) AND not provided ClinVar Detail
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) AND not specified ClinVar Detail
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) AND Long QT syndrome ClinVar Detail
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) AND Cardiovascular phenotype ClinVar Detail
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) AND Cardiomyopathy ClinVar Detail
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) AND Long QT syndrome 1 ClinVar Detail
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) AND Caveolinopathy ClinVar Detail
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) AND CAV3-related disorder ClinVar Detail
In silico prediction tools were applied to variants present in ESP and 6 SIDS-associated variants (C... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated wi... DisGeNET Detail
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated wi... DisGeNET Detail
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs72546668 dbSNP
Genome
hg19
Position
chr3:8,787,330-8,787,330
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120800
Allele Counts in All Race (ExAC)
367
Heterozygous Counts in All Race (ExAC)
365
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0030380794701986755
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